Results 71 to 80 of about 2,601,816 (350)

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

The prevalence of posttraumatic stress disorder in a sample of people living with intellectual disability that have been raped or sexually assaulted [PDF]

, 2009
Includes bibliographical references (leaves 52-57).The phenomena of post-traumatic stress disorder (PTSD) in people living with intellectual disability that had been raped or sexually assaulted have not previously been researched in the South African ...
Jasson, Aimée E
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Supporting Advanced Dementia in people with Down syndrome and other intellectual disabilities: Consensus Statement of the International Summit on Intellectual Disability and Dementia [PDF]

, 2018
The International Summit on Intellectual Disability and Dementia (Glasgow, Scotland; October 2016) noted that advanced dementia can be categorised as that stage of dementia progression characterised by significant losses in cognitive and physical ...
Fortea, J., S. Stemp, McCarron, Mary, Watchman, Karen, McCallion, P., J. Fortea, Janicki, M., Janicki, Matthew, M. Janicki, McCallion, Philip, P. McCallion, K. Wtachman, Coppus, Antonia, Fortea, Juan, McCarron, M., Coppus, A., Stemp, S., Stemp, Sandy, M. McCarron, Wtachman, K., A. Coppus   +20 more
core   +1 more source

Upadacitinib Restrains the Pathogenic Fitness of CD4+ T Cells and Aberrant B Cell Programming in Optic Neuritis

Advanced Science, EarlyView.
Single‐cell profiling and functional perturbation reveal coordinated JAK1‐pSTAT3 downstream programs in optic neuritis, including MCL1‐dependent fitness of pathogenic CD4+ Tem cells and glycolysis‐linked, cholesterol‐sensitive B‐cell responses associated with RORA. Upadacitinib disrupts this reciprocal T‐B‐cell circuit and alleviates neuroinflammation,
Gengchen Jiang, Qi Jiang, Lian Han, Yue Peng, Xingyu Liu, Tong Yang, Hao Huang, Jiaying Liu, Yuan Gao, Hui Yang, Wenjun Zou, Zhaohuai Li, Wenru Su   +12 more
wiley   +1 more source

Galactokinase 1 Positively Regulates Mitochondrial Respiration by Phosphorylating TIMM13 as a Protein Kinase

Advanced Science, EarlyView.
GALK1 acts as a protein kinase beyond the phosphorylation of galactose. GALK1 phosphorylates TIMM13 at Y73 in the cytoplasm. This phosphorylation prevents premature oxidative folding of TIMM13 and ensures its entrance into the intermembrane space of mitochondrion, positively regulating mitochondrial respiration.
Chang Woo Ko, Dongyoon Shin, Junho Park, June Huh, Youngsoo Kim, Jong‐Wan Park   +5 more
wiley   +1 more source

Motor Deficits of Girls with Down Syndrome in Comparing with Girls with Intellectual Disability in the School Ages Children

Journal of Rehabilitation, 2014
Objective: Motor function in children with Down syndrome is similar to mentally retarded children. But the movements are slower and have lower quality. The purpose of this study was to identify weaknesses in motor function in children with Down syndrome,
Tahereh Daftari-Anbardan, Fatemeh Behnia, Firouzeh Sajedi, Mehdi Rassafiani, Akbar Biglarian   +4 more
doaj  

The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome

The Turkish Journal of Pediatrics, 2019
Chromosome 2q37 deletion syndrome is a rare chromosomal disorder which is characterized by mild-moderate intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia and characteristic facial appearance.
Semra Gürsoy, Yaşar Bekir Kutbay, Taha Reşid Özdemir, Filiz Hazan   +3 more
doaj   +1 more source

A Report on a Family with TMTC3-Related Syndrome and Review

Case Reports in Medicine, 2020
Recessive mutations in the TMTC3 gene have been reported in thirteen patients to date exhibiting development delay, intellectual disability (ID), seizures, and muscular hypotonia, accompanied occasionally by neuronal migration defects expressed as either
Sayeeda Hana, Deepak karthik, Jingxuan Shan, Stephany El Hayek, Lotfi Chouchane, André Megarbane   +5 more
doaj   +1 more source

Drug Repurposing for Treating NCOR‐Related Intellectual Disability

Advanced Science, EarlyView.
An autism‐associated NCOR1 heterozygous mutation upregulates NRGs and activates NRG backward signaling in hypothalamic GABAergic neurons in mouse models, leading to Gabra2 downregulation and cognitive deficits, which can be therapeutically targeted by repurposing FDA‐approved drugs.
Yan Kong, Wenjun Zhou, Yuxiang Sun, Zihan Huang, Zhiyue Liu, Udhaya Kumar. S, Chenyan Li, Yi Lu, Chengchuang Song, Veronica C. Ciliberto, Makenna Mack, Lana E. Kim, Zhaoyong Hu, Fang Luo, Aihua Cao, Zheng Sun   +15 more
wiley   +1 more source

Participant opinions of randomised controlled trials within intellectual disability services [PDF]

, 2010
OBJECTIVE: This study examined participants’ opinions and beliefs about Randomised Controlled Trials (RCTs) in an intellectual disability context. BACKGROUND: RCTs in this field require co-operation from various stakeholders, including carers and
Robotham, D.J.
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